Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | AKAP13 |
| Gene Name: | AKAP13 |
| Protein Full Name: | A-kinase anchor protein 13 |
| Alias: | A kinase (PRKA) anchor protein 13; AKAP-Lbc; AKP13; ARHGEF13; Breast cancer nuclear receptor-binding auxiliary protein; BRX; C-lbc; FLJ11952; Guanine nucleotide exchange factor Lbc; HA-3; Ht31; Human thyroid-anchoring protein 31; LBC; Lymphoid blast crisis oncogene; Non-oncogenic Rho GTPase-specific GTP exchange factor; P47; Protein kinase A-anchoring protein 13; PROTO-LB; PROTO-LBC |
| Mass (Da): | 307550 |
| Number AA: | 2813 |
| UniProt ID: | Q12802 |
| Locus ID: | 11214 |
| COSMIC ID: | AKAP13 |
| Gene location on chromosome: | 15q24-q25 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN* |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19856 |
| Percent of cancer specimens with mutations: | 1.82 |
| Normal role description: | AKAP13 functions as a Guanine nucleotide exchange factor (GNEF) for the Rho family of monomeric G proteins and for G alpha-13, via its DH domain. Some forms of the protein function as co-factor for the estrogen receptor. It also binds to the regulatory subunit of PKA, anchoring it to discrete locations in the cell. |
| Commentary on involvement of protein in cancer: | Only 1 liver, 1 skin and 2 urinary tract unique samples were included in the Sanger COSMIC database. 2% (2/101) of kidney samples were also mutated (1 silent mutation and 1 complex inframe deletion). *Mutations generally activate the proto-oncogene, although there are examples (e.g. a mutation at the Tyrosine 2153 residue) that act to downregulate the GNEF fuction of the protein and its interaction with Rho. |